Distal trisomy of 10q. Report of a new case of duplication 10q25.2-25.3-->qter defined by FISH

Ann Genet. 2002 Jan-Mar;45(1):9-12. doi: 10.1016/s0003-3995(02)01102-4.

Abstract

In the present work, we report on a 2.5-year-old male patient with typical clinical features of partial trisomy of the distal third of chromosome 10 long arm. The karyotype was: 46,XY, dir dup(10)(q25.2-25.3-->qter). The identification of the duplicated segment was carried out by the fluorescence in situ hybridization technique using region-specific probes. The proband's phenotype is compared with previously reported cases.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Child, Preschool
  • Chromosomes, Human, Pair 10*
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Trisomy*